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ARHGEF1 Gene

protein-coding   GIFtS: 66
GCID: GC19P042387

Rho Guanine Nucleotide Exchange Factor (GEF) 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Rho Guanine Nucleotide Exchange Factor (GEF) 11 2     P115-RHOGEF2
115 KDa Guanine Nucleotide Exchange Factor2 3     SUB1.52
p115RhoGEF2 3     Lsc Homolog2
LBCL22 5     Rho Guanine Nucleotide Exchange Factor 12
115-KD Protein2     Sub1.53
GEF12     p115-RhoGEF3
LSC2     

External Ids:    HGNC: 6811   Entrez Gene: 91382   Ensembl: ENSG000000769287   OMIM: 6018555   UniProtKB: Q928883   

Export aliases for ARHGEF1 gene to outside databases

Previous GC identifers: GC19P043026 GC19P042778 GC19P047063 GC19P047079 GC19P038818


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARHGEF1 Gene:
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli
that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate
Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the
full-length nature of some variants has not been defined. (provided by RefSeq, Jul 2008)

GeneCards Summary for ARHGEF1 Gene:
ARHGEF1 (Rho guanine nucleotide exchange factor (GEF) 1) is a protein-coding gene. Diseases associated with ARHGEF1 include oculomotor nerve paralysis, and skin lipoma. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF2.

UniProtKB/Swiss-Prot: ARHG1_HUMAN, Q92888
Function: Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and
alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide
exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through
interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates
angiotensin-2-induced RhoA activation

Gene Wiki entry for ARHGEF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARHGEF1 gene promoter:
         MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ARHGEF1 promoter sequence
   Search Chromatin IP Primers for ARHGEF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARHGEF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.13   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.13

ARHGEF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P042387:  view genomic region     (about GC identifiers)

Start:
42,387,228 bp from pter      End:
42,434,302 bp from pter
Size:
47,075 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ARHG1_HUMAN, Q92888 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 1  
Size: 912 amino acids; 102435 Da
Subunit: Interacts with RHOA, GNA12 and GNA13. Homooligomerizes through the coiled coil region. May interact with
CCPG1 (By similarity). Interacts with CTNNAL1
Sequence caution: Sequence=CAA70356.1; Type=Frameshift; Positions=904; Sequence=CAA70356.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;
Selected PDB 3D structures from and Proteopedia for ARHGEF1 (see all 7):
1IAP (3D)        1SHZ (3D)        3AB3 (3D)        3ODO (3D)        3ODW (3D)        3ODX (3D)    
Secondary accessions: O00513 Q8N4J4 Q96BF4 Q96F17 Q9BSB1
Alternative splicing: 3 isoforms:  Q92888-1   Q92888-2   Q92888-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARHGEF1: NX_Q92888

Explore proteomics data for ARHGEF1 at MOPED

Post-translational modifications: 

  • Phosphorylated by PKCA. Angiotensin-2 induced Tyr-738 phosphorylation is mediated by JAK21
  • Ubiquitination2 at Lys510, Lys567, Lys701
  • Modification sites at PhosphoSitePlus

  • See ARHGEF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_004697.2  NP_945328.1  NP_945353.1  

    ENSEMBL proteins: 
     ENSP00000346532   ENSP00000470715   ENSP00000344429   ENSP00000367394   ENSP00000337261  
     ENSP00000473229   ENSP00000470557   ENSP00000469735   ENSP00000470042   ENSP00000472466  
     ENSP00000469409   ENSP00000471942  
    Reactome Protein details: Q92888

    ARHGEF1 Human Recombinant Protein Products:

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    Novus Biologicals ARHGEF1 Proteins
    Novus Biologicals ARHGEF1 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ARHGEF1

    ARHGEF1 Antibody Products:

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    Abcam antibodies for ARHGEF1
    Cloud-Clone Corp. Antibodies for ARHGEF1
    Search ThermoFisher Antibodies for ARHGEF1
    LSBio Antibodies in human, mouse, rat for ARHGEF1

    ARHGEF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ARHGEF1
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    Cloud-Clone Corp. CLIAs for ARHGEF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARHGEF: Rho guanine nucleotide exchange factors

    Selected InterPro protein domains (see all 6):
     IPR015212 RGS-like_dom
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR015721 RhoGEF-like

    Graphical View of Domain Structure for InterPro Entry Q92888

    ProtoNet protein and cluster: Q92888

    2 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ARHG1_HUMAN, Q92888
    Domain: The RGSL domain, also known as rgRGS domain, is necessary but not sufficient for GAP activity
    Domain: The DH domain is involved in interaction with CCPG1 (By similarity)
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 RGSL (RGS-like) domain


    ARHGEF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARHG1_HUMAN, Q92888
    Function: Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and
    alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide
    exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through
    interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates
    angiotensin-2-induced RhoA activation

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding IPI12681510
    GO:0044822poly(A) RNA binding IDA--
         
    ARHGEF1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ARHGEF1:
     Decreased homologous recombina  Decreased viability with pacli 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Arhgef1):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  muscle 

    ARHGEF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ARHGEF1: Arhgef1tm1Djle Arhgef1tm1Kdf Arhgef1tm1.1Rmt

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARHGEF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ARHGEF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARHGEF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARHGEF1

    miRNA
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    miRTarBase miRNAs that target ARHGEF1:
    hsa-mir-26a-5p (MIRT050115), hsa-mir-335-5p (MIRT018227), hsa-mir-124-3p (MIRT002695), hsa-mir-331-3p (MIRT043573)

    Block miRNA regulation of human, mouse, rat ARHGEF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARHGEF1 (see all 14):
    hsa-miR-3163 hsa-miR-125a-5p hsa-miR-429 hsa-miR-1914* hsa-miR-4306 hsa-miR-656 hsa-miR-124 hsa-miR-200c
    SwitchGear 3'UTR luciferase reporter plasmidARHGEF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ARHGEF1
    Predesigned siRNA for gene silencing in human, mouse, rat ARHGEF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ARHGEF1

    Clone
    Products:
         
    OriGene clones in human, mouse for ARHGEF1 (see all 20)
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    GenScript: all cDNA clones in your preferred vector (see all 3): ARHGEF1 (NM_004706)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARHGEF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGEF1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ARHG1_HUMAN, Q92888: Cytoplasm. Membrane. Note=Translocated to the membrane by activated GNA13 or LPA stimulation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane4
    nucleus3
    chloroplast2
    cytoskeleton2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--

    ARHGEF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ARHGEF1 About   (see all 30)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    2GPCR Pathway
    Ras Pathway0.73
    Pancreatic Adenocarcinoma0.59
    GPCR Pathway0.62
    Breast Cancer Regulation by Stathmin10.58
    3p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    p75NTR regulates axonogenesis0.00
    G alpha (12/13) signalling events0.44
    Axonal growth inhibition (RHOA activation)0.00
    4Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    5G-AlphaQ Signaling
    G-AlphaQ Signaling0.47
    Thrombin Signaling0.40
    G-AlphaI Signaling0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ARHGEF1 (see all 24)
        RhoA Pathway
    Guidance Cues and Growth Cone Motility
    Molecular Mechanisms of Cancer
    G12-G13 in Cellular Signaling
    Interferon Pathway

    1 Cell Signaling Technology (CST) Pathway for ARHGEF1
        Cytoskeletal Signaling

    3 GeneGo (Thomson Reuters) Pathways for ARHGEF1
        G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    G-protein signaling RhoA regulation pathway
    G-protein signaling G-Protein alpha-12 signaling pathway

    Selected BioSystems Pathways for ARHGEF1 (see all 6)
        G13 Signaling Pathway
    G Protein Signaling Pathways
    Regulation of Actin Cytoskeleton
    LPA receptor mediated events
    Regulation of RhoA activity

    2 Reactome Pathways for ARHGEF1
        Axonal growth inhibition (RHOA activation)
    G alpha (12/13) signalling events


    3 Kegg Pathways  (Kegg details for ARHGEF1):
        Vascular smooth muscle contraction
    Regulation of actin cytoskeleton
    Proteoglycans in cancer


    ARHGEF1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGEF1
    Interactions:

        GeneGlobe Interaction Network for ARHGEF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ARHGEF1 (Q928881, 2, 3 ENSP000003372614) via UniProtKB, MINT, STRING, and/or I2D (see all 841)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK1EP496742, 3, ENSP000003529294MINT-8252681 I2D: score=2 STRING: ENSP00000352929
    GNA12Q031132, 3, ENSP000002753644MINT-7909421 I2D: score=1 STRING: ENSP00000275364
    GNA13Q143441, 2, 3, ENSP000004007174EBI-465400,EBI-465387 MINT-7909440 I2D: score=4 STRING: ENSP00000400717
    ATRQ135352, 3, ENSP000003437414MINT-7945693 I2D: score=1 STRING: ENSP00000343741
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007266Rho protein signal transduction TAS10747909
    GO:0008283cell proliferation TAS8810315
    GO:0032319regulation of Rho GTPase activity TAS8810315
    GO:0035023regulation of Rho protein signal transduction ----
    GO:0038032termination of G-protein coupled receptor signaling pathway IEA--

    ARHGEF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARHGEF1 (ARHG1)

    3 HMDB Compounds for ARHGEF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    3 Novoseek inferred chemical compound relationships for ARHGEF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 46.1 1 12024019 (1)
    arginine 41.5 11 17449226 (4), 12024019 (3), 15488183 (1), 15331592 (1) (see all 6)
    tyrosine 0.436 1 10821841 (1)



    ARHGEF1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ARHGEF1 gene (3 alternative transcripts): 
    NM_004706.3  NM_198977.1  NM_199002.1  

    Unigene Cluster for ARHGEF1:

    Rho guanine nucleotide exchange factor (GEF) 1
    Hs.631550  [show with all ESTs]
    Unigene Representative Sequence: BC064996
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000354532(uc002orw.1 uc002orx.3 uc002orz.3) ENST00000600387
    ENST00000600274 ENST00000599846 ENST00000596957 ENST00000347545(uc002ory.3 uc002osd.3)
    ENST00000378152(uc002osc.3) ENST00000337665(uc002osa.3 uc002osb.3)
    ENST00000598812 ENST00000594521 ENST00000593869 ENST00000599589 ENST00000595897
    ENST00000594258 ENST00000594044 ENST00000595723 ENST00000600517 ENST00000598587

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    Selected qRT-PCR Assays for microRNAs that regulate ARHGEF1 (see all 14):
    hsa-miR-3163 hsa-miR-125a-5p hsa-miR-429 hsa-miR-1914* hsa-miR-4306 hsa-miR-656 hsa-miR-124 hsa-miR-200c
    SwitchGear 3'UTR luciferase reporter plasmidARHGEF1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): ARHGEF1 (NM_004706)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGEF1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ARHGEF1
      QuantiFast Probe-based Assays in human, mouse, rat ARHGEF1

    Additional mRNA sequence: 

    AL832294.1 BC005155.2 BC011726.2 BC015652.2 BC034013.1 BC035127.1 BC064996.1 BC067262.1 
    BT007421.1 U64105.1 XR_109536.2 XR_133186.2 XR_172294.1 

    22 DOTS entries:

    DT.100801442  DT.100039607  DT.97779113  DT.92438951  DT.95211158  DT.121643665  DT.97760161  DT.100801445 
    DT.100800053  DT.92438958  DT.95260447  DT.95322545  DT.97760163  DT.121443288  DT.441034  DT.91668555 
    DT.92438950  DT.95155326  DT.102833291  DT.75110803  DT.95221875  DT.113454 

    Selected AceView cDNA sequences (see all 343):

    BQ711445 BQ962579 BG982689 BI768287 BC034013 BM915778 BG983189 AA295103 
    BQ926216 BF768979 CR620754 AW298012 BQ052766 BQ214651 BC064996 BX405132 
    BM449539 CR615730 AA767251 BQ220172 BF309508 BU171983 AI865820 BC011726 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^
    SP1:                                                                          -                 -                                               -     -         
    SP2:                          -     -                                         -                 -                                               -     -         
    SP3:                          -     -                       -     -           -                 -                                               -     -         
    SP4:                                                        -     -           -                 -                                               -     -         
    SP5:                                                                                                                                                  -         

    ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
    SP1:  -                                                                                                   
    SP2:  -                                                                                                   
    SP3:  -                                                                                                   
    SP4:  -                                                                                   -               
    SP5:  -                                                                                   -               


    ECgene alternative splicing isoforms for ARHGEF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ARHGEF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARHGEF1 Expression
    About this image


    ARHGEF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lung (Respiratory System)
     
     Tonsil (Hematopoietic System)
     
     Stomach (Gastrointestinal Tract)
     
     Spleen (Hematopoietic System)
    ARHGEF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGEF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631550

    UniProtKB/Swiss-Prot: ARHG1_HUMAN, Q92888
    Tissue specificity: Ubiquitously expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ARHGEF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgef11 , 5 Rho guanine nucleotide exchange factor (GEF) 11, 5 86.11(n)1
    89.11(a)1
      7 (13.52 cM)5
    168011  NM_008488.21  NP_032514.11 
     249029125 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    16(a)
    many ↔ many
    7(25759067-25774582)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arhgef11 Rho guanine nucleotide exchange factor (GEF) 1 61.33(n)
    56.85(a)
      100037905  XM_002941928.2  XP_002941974.2 
    zebrafish
    (Danio rerio)
    Actinopterygii arhgef1b6
    Rho guanine nucleotide exchange factor (GEF) 1b
    38(a)
    1 ↔ 1
    16(28391679-28483195) ENSDARG00000055837
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGEF23 gastrulation diacylglycerol binding 36(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea F13E6.63 Tiam-1 like protein 35(a)   X(10733408-10738294)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ROM26
    ROM16
    GDP/GTP exchange factor (GEF) for Rho1p and Rho2p;...
    GDP/GTP exchange protein (GEP) for Rho1p; mutation...
    9(a)
    10(a)
    many ↔ many
    many ↔ many
    XII(862714-866784) YLR371W
    VII(627806-631273) YGR070W


    ENSEMBL Gene Tree for ARHGEF1 (if available)
    TreeFam Gene Tree for ARHGEF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARHGEF1 gene
    ARHGEF22  ARHGEF32  ARHGEF112  ENSG000002688612  NET12  ARHGEF122  AKAP132  ARHGEF182  
    ARHGEF282  
    8 SIMAP similar genes for ARHGEF1 using alignment to 11 protein entries:     ARHG1_HUMAN (see all proteins):
    FLJ00369    ARHGEF12    ARHGEF11    AKAP13    ARHGEF2    ARHGEF28
    ARHGEF18    NET1

    ARHGEF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ARHGEF1 (see all 702)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359694
    A colorectal cancer sample4--see VAR_0359692 M V mis40--------
    rs1880155851,2
    C--42385955(+) CCACCC/TACCTT 2 -- us2k10--------
    rs1431206391,2
    C--42386000(+) CACCAC/TGCCCG 2 -- us2k10--------
    rs345839011,2
    C--42386010(+) GCCGC-/T/TT  
            
    TTTTT
    2 -- us2k10--------
    rs1819532931,2
    --42386382(+) CGATGC/GGTTGA 2 -- us2k10--------
    rs1164054381,2
    F--42386530(+) TGAAGG/AGGACG 3 -- us2k11Minor allele frequency- A:0.01WA 118
    rs792035581,2
    C,F--42386557(+) GATGAT/CGAGAC 3 -- us2k12Minor allele frequency- C:0.13CSA WA 120
    rs1466619891,2
    --42386591(+) GGGACA/GTGGAG 3 -- us2k10--------
    rs779366181,2
    C,F--42386684(+) AGGCAC/GAGCAA 3 -- us2k11Minor allele frequency- G:0.01WA 118
    rs768602691,2
    C,F--42386762(+) AGAAGG/AGCTTT 3 -- us2k11Minor allele frequency- A:0.10WA 118

    HapMap Linkage Disequilibrium report for ARHGEF1 (42387228 - 42434302 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ARHGEF1 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672585CNV Deletion23128226
    esv2718583CNV Deletion23290073
    esv2718582CNV Deletion23290073
    esv2227579CNV Deletion18987734
    nsv820680CNV Deletion20802225
    esv2660933CNV Deletion23128226
    esv2399724CNV Deletion18987734
    esv2718581CNV Deletion23290073
    esv2718586CNV Deletion23290073
    nsv520239CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601855    OMIM disorders: --

    Selected diseases for ARHGEF1 (see all 22):    
    About MalaCards
    oculomotor nerve paralysis    skin lipoma    facial hemiatrophy    aagenaes syndrome
    gitelman syndrome    localized scleroderma    poliomyelitis    lipoma
    scleroderma    spasticity    breast and colorectal cancer    hypertension
    pancreatic cancer    pancreatitis    breast cancer    adenocarcinoma
    prostate cancer    hiv-1    prostatitis    colorectal cancer

    4 diseases from the University of Copenhagen DISEASES database for ARHGEF1:
    Poliomyelitis     Localized scleroderma     Leukemia     Skin lipoma

    ARHGEF1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ARHGEF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 0 1 12748184 (1)

    Genetic Association Database (GAD): ARHGEF1
    Human Genome Epidemiology (HuGE) Navigator: ARHGEF1 (4 documents)

    Export disorders for ARHGEF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for ARHGEF1 gene, integrated from 10 sources (see all 90):
    (articles sorted by number of sources associating them with ARHGEF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization, expression and chromosomal localization of a human gene homologous to the mouse Lsc oncogene, with strongest expression in hematopoetic tissues. (PubMed id 9135076)1, 2, 3, 9 Aasheim H.-C.... Smeland E.B. (Oncogene 1997)
    2. Identification of a novel guanine nucleotide exchange factor for the rho GTPase. (PubMed id 8810315)1, 2, 3 Hart M.J....Bollag G. (J. Biol. Chem. 1996)
    3. PKCa-induced p115RhoGEF phosphorylation signals endothelial cytoskeletal rearrangement. (PubMed id 12754211)1, 2, 9 Holinstat M.... Malik A.B. (J. Biol. Chem. 2003)
    4. Structure of the rgRGS domain of p115RhoGEF. (PubMed id 11524686)1, 2, 9 Chen Z.... Sprang S.R. (Nat. Struct. Biol. 2001)
    5. Direct stimulation of the guanine nucleotide exchange activity of p115 RhoGEF by Galpha13. (PubMed id 9641916)1, 2, 9 Hart M.J.... Bollag G. (Science 1998)
    6. p115 RhoGEF, a GTPase activating protein for Galpha12 and Galpha13. (PubMed id 9641915)1, 2, 9 Kozasa T.... Sternweis P.C. (Science 1998)
    7. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (J. Hum. Genet. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Association of Lbc Rho guanine nucleotide exchange factor with alpha- catenin-related protein, alpha-catulin/CTNNAL1, supports serum response factor activation. (PubMed id 12270917)1, 2 Park B.... Toksoz D. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9138 HGNC: 681 AceView: ARHGEF1 Ensembl:ENSG00000076928 euGenes: HUgn9138
    ECgene: ARHGEF1 Kegg: 9138 H-InvDB: ARHGEF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ARHGEF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ARHGEF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ARHGEF1 gene:
    Search GeneIP for patents involving ARHGEF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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